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Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder of the nervous system which prevents the feeling of pain or temperature and prevents a person from sweating. Cognitive disorders are commonly coincidental.
1960: Ervin and Sternbach describe 6 members from a 2-generation family with dominantly-inherited congenital insensitivity to pain. [ 4 ] 1974: Comings and Amromin describe 3 members from a 2-generation family which consisted of a mother, her son and her daughter with the symptoms characteristic of Marsili syndrome, there was a possibility that ...
Another gene implicated in human pain insensitivity is ZFHX2, which encodes zinc finger homeobox 2. A 2018 study analysed six members of a family with inherited pain insensitivity and identified a "novel point mutation in ZFHX2, encoding a putative transcription factor expressed in small diameter sensory neurons", as the cause.
Little to no ability to sweat (hypo/anhidrosis) Frontal bossing (prominence of the forehead) Wrinkling under the eyes; Periorbital hyperpigmentation; These symptoms are accompanied by an immunodeficiency that affects the entire body and impairs the body's antibody response (especially that to polysaccharides).
The diagnostic criteria for acquired idiopathic generalized anhidrosis is as follows: [6] Despite the widespread distribution of idiopathic anhidrosis or hypohidrosis lesions in a non-segmental spinal pattern, no additional neurological or autonomic symptoms are noted. [6] At least 25% of the body is affected by anhidrotic or hypohidrotic regions.
Idiopathic pure sudomotor failure (IPSF) is the most common cause of a rare disorder known as acquired idiopathic generalized anhidrosis (AIGA), a clinical syndrome characterized by generalized decrease or absence of sweating without other autonomic and somatic nervous dysfunctions and without persistent organic cutaneous lesions.
Anhidrosis is not a temporary condition, and as Hamblin concludes, "a temporary inability to sweat would defy medical precedent. A long-standing detachment from the consequences of one’s actions ...
In instances where the cause is known, treatment should be directed at the primary pathology. In autoimmune diseases, such as Sjögren syndrome and systemic sclerosis, treatment of the underlying disease using immunosuppressive drugs may lead to improvement in hypohidrosis. In neurological diseases, the primary pathology is often irreversible.